Familiäre Erythrozytose 2

Vasserman NN et al. (1999) Localization of the gene responsible for familial benign polycythemia to chromosome 11q23.

Ang SO et al. (2002) Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

Percy MJ et al. (2003) Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.

Pastore Y et al. (2003) Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

Liu E et al. (2004) The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.

Gordeuk VR et al. (2004) Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

Cario H et al. (2005) Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.

Perrotta S et al. (2006) Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

Hickey MM et al. (2007) von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.

Russell RC et al. (2011) Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.

Yonemitsu H et al. (1973) Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine.

None (2005) Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment.

None (2005) Polycythemia vera and other primary polycythemias.

Ang SO et al. () Endemic polycythemia in Russia: mutation in the VHL gene.

AUERBACK ML et al. (1958) Benign familial polycythemia in childhood; report of two cases.

Kolik LM et al. (1974) [Comparative evaluation of the velocity of cerebrovascular circulation according to data of radiocirculography in patients with erythremia and anemia].

Adamson JW et al. (1973) Recessive familial erythrocytosis: aspects of marrow regulation in two families.

Davey MG et al. (1968) Femilial erythrocytosis. A report of two cases, and a review.

Whitcomb WH et al. (1980) Congenital erythrocytosis: a new form associated with an erythropoietin-dependent mechanism.

Greenberg BR et al. (1977) Erythropoiesis in familial erythrocytosis.

Sergeyeva A et al. (1997) Congenital polycythemia in Chuvashia.